Variant report

Variant	nsv10296
Chromosome Location	chr3:103403867-103415500
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 269 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141798185	chr3:103403871-103403872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150153911	chr3:103403902-103403903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559511967	chr3:103403912-103403913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183566254	chr3:103404053-103404054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs72962107	chr3:103404098-103404099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77552113	chr3:103404104-103404105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs16846607	chr3:103404111-103404112	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs375328078	chr3:103404141-103404142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532936982	chr3:103404169-103404170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73155536	chr3:103404174-103404175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368624487	chr3:103404196-103404197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188709831	chr3:103404199-103404200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs398091687	chr3:103404202-103404203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs386664070	chr3:103404203-103404204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76476814	chr3:103404204-103404205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146295878	chr3:103404230-103404231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs367635434	chr3:103404272-103404273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368184078	chr3:103404277-103404278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374552517	chr3:103404292-103404293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139644822	chr3:103404313-103404314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs193181371	chr3:103404332-103404333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs199950920	chr3:103404355-103404356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149579771	chr3:103404365-103404366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs71325546	chr3:103404367-103404368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558205889	chr3:103404382-103404383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573475575	chr3:103404441-103404442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540521049	chr3:103404455-103404456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561353634	chr3:103404456-103404457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185256423	chr3:103404548-103404549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188523692	chr3:103404567-103404568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191708567	chr3:103404586-103404587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75818018	chr3:103404626-103404627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551544289	chr3:103404635-103404636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144349754	chr3:103404640-103404641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183804168	chr3:103404652-103404653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375677423	chr3:103404795-103404796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138509486	chr3:103404796-103404797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112934010	chr3:103404798-103404799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149446907	chr3:103404799-103404800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372068142	chr3:103404800-103404801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76763842	chr3:103404825-103404826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140557935	chr3:103404826-103404827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553818691	chr3:103404827-103404828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188330401	chr3:103404831-103404832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191235437	chr3:103404861-103404862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78855276	chr3:103404905-103404906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539690360	chr3:103404917-103404918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142462915	chr3:103404925-103404926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs80133580	chr3:103404929-103404930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534524964	chr3:103404932-103404933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Developmental delay	22180640	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:103393800-103409000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:103403200-103404000	Enhancers	Fetal Lung	lung
3	chr3:103403800-103404200	Enhancers	Fetal Kidney	kidney
4	chr3:103404200-103404600	Enhancers	Fetal Heart	heart
5	chr3:103409000-103410200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:103412600-103413200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:103412600-103413200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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